ClinVar Miner

Submissions for variant GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Cytogenetics and Genomic Microarray, ARUP Laboratories RCV003987082 SCV004802014 pathogenic not specified criteria provided, single submitter clinical testing
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001564035 SCV001787130 likely pathogenic See cases 2021-07-09 no assertion criteria provided research
Cytogenetics, Genetics Associates, Inc. RCV002287564 SCV002576569 uncertain significance See cases no assertion criteria provided clinical testing
GenomeConnect, ClinGen RCV003228699 SCV003925458 not provided Chromosome 15q11.2 deletion syndrome no assertion provided phenotyping only Variant interpreted as Likely pathogenic and reported on 06-07-2022 by GeneDx. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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